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Circulating tumor DNA and liquid biopsy: opportunities, challenges, and recent advances in detection technologies


Cell free DNA (cfDNA) refers to short fragments of acellular nucleic acids detectable in almost all body fluids, including blood, and are involved in various physiological and pathological phenomenon such as immunity, coagulation, aging, and cancer. In cancer patients, a fraction of hematogenous cfDNA originates from tumors, termed as circulating tumor DNA (ctDNA), and may carry the same mutations and genetic alterations as those of primary tumor. Thus, ctDNA potentially provides an opportunity for noninvasive assessment of cancer. Recent advances in ctDNA analysis methods will potentially lead to the development of liquid biopsy tool for the diagnosis, prognosis, therapy response monitoring, and tracking the rise of new mutant sub-clones in cancer patients. Over the past few decades, cancer specific mutations in ctDNA have been detected using a variety of untargeted methods such as digital karyotyping, personalized analysis of rearranged ends (PARE), whole-genome sequencing of ctDNA, and targeted approaches such as conventional and digital PCR-based methods and deep sequencing-based technologies. More recently, several chip-based electrochemical sensors have been developed for the analysis of ctDNA in patient samples. This paper aims to comprehensively review the diagnostic, prognostic, and predictive potential of ctDNA as a minimally invasive liquid biopsy for cancer patients. We also present an overview of current advances in the analytical sensitivity and accuracy of ctDNA analysis methods as well as biological and technical challenges, which need to be resolved for integration of ctDNA analysis into routine clinical practice.

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Publication details

The article was received on 27 Jan 2018, accepted on 12 Mar 2018 and first published on 13 Mar 2018

Article type: Critical Review
DOI: 10.1039/C8LC00100F
Citation: Lab Chip, 2018, Accepted Manuscript
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    Circulating tumor DNA and liquid biopsy: opportunities, challenges, and recent advances in detection technologies

    L. Gorgannezhad, M. Umer, M. N. Islam, N. Nguyen and M. J. A. Shiddiky, Lab Chip, 2018, Accepted Manuscript , DOI: 10.1039/C8LC00100F

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